Q269H (p.Gln269His) variant of ETFDH (Q16134)
Q269H (p.Gln269His) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glutaric acidemia IIc; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q269H (p.Gln269His) variant details
- p.Gln269His
- rs1265381182
- ClinGen CA358560944
- ClinVar RCV000685445
- ClinVar RCV001829892
- Conflicting interpretations
- Glutaric acidemia IIc; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.83
- CADD 20.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glutaric acidemia IIc; Multiple acyl-CoA dehydrogenase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)